Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:PNGase
gptkb:peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine_amidase |
| gptkbp:associatedWith |
gptkb:NGLY1_deficiency
|
| gptkbp:discoveredBy |
Suzuki et al.
|
| gptkbp:encodes |
gptkb:N-glycanase_1
|
| gptkbp:Entrez_Gene_ID |
55768
|
| gptkbp:enzymeCommissionNumber |
3.5.1.52
|
| gptkbp:expressedIn |
various human tissues
|
| gptkbp:firstDescribed |
2002
|
| gptkbp:function |
removes N-glycans from glycoproteins
|
| gptkbp:HGNC_ID |
17646
|
| https://www.w3.org/2000/01/rdf-schema#label |
NGLY1
|
| gptkbp:length |
654 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
3p24.2 |
| gptkbp:mutationAssociatedWith |
gptkb:congenital_disorder_of_deglycosylation
|
| gptkbp:OMIM |
610661
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Ngly1
|
| gptkbp:UniProtID |
gptkb:Q96IV0
|
| gptkbp:bfsParent |
gptkb:NGLD
|
| gptkbp:bfsLayer |
6
|